Results 121 to 130 of about 123,112 (260)

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Case Reports in Pediatrics, 2018
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins   +4 more
doaj   +1 more source

β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy. [PDF]

JIMD Rep, 2022
Pedersen JJ, Duno M, Wibrand F, Hammer C, Krag T, Vissing J.   +5 more
europepmc   +1 more source

Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases [PDF]

, 2017
James C. Dodge
openalex   +1 more source

Punicalagin Enhances Autophagy Through Sirtuin 1/FoxO3a Axis to Inhibit Intracellular Mycobacterium Abscessus Infection

Advanced Science, EarlyView.
Punicalagin, a pomegranate molecule, helps the body fight Mycobacterium abscessus. It preferentially boosts interstitial macrophages in the lung, stabilizing mitochondria and switching on the autophagy via SIRT1/FoxO3a, which lowers bacterial load without directly killing bacteria.
Kefan Bi, Bihan Xu, Dan Cao, Kaijin Xu, Ying Zhang   +4 more
wiley   +1 more source

Intracellular Mechanical Stress‐Mediated Autophagy Cell Death via Nanospikes for Cancer Treatment

Advanced Science, EarlyView.
Nanospikes with tunable morphology at the nanoscale induce lysosomal membrane damage by generating localized mechanical stress, activating Galectin‐3 (Gal3)‐Trim16‐mediated autophagic cell death. Finite element analysis and laser‐triggered spike ablation enable precise control of intracellular force signaling and cytotoxicity, offering a ...
Yingze Li, Zihan Guo, Jiawei Fan, Ruimei Zhou, Jiayan Li, Zhixiang Hu, Weicheng Gu, Mengge Zheng, Chang Xu, Yichao Tang, Chang Chen, Yu Cheng   +11 more
wiley   +1 more source

Mechanical Stress Triggers Premature Senescence in Cardiac Fibroblasts

Advanced Science, EarlyView.
Cellular senescence contributes to disease burden in cardiovascular disease (CVD) and aging, highlighting the need to understand its induction. In primary cardiac fibroblasts, reduced strain and increased frequency, mimicking CVD, elicit a distinct senescent phenotype compared to oxidative stress.
Stephanie E. Schneider, Adrienne K. Scott, Katie M. Gallagher, Emily Y. Miller, Soham Ghosh, Corey P. Neu   +5 more
wiley   +1 more source

HexA-Enzyme Coated Polymer Nanoparticles for the Development of a Drug-Delivery System in the Treatment of Sandhoff Lysosomal Storage Disease. [PDF]

J Funct Biomater, 2022
Calzoni E, Cesaretti A, Montegiove N, Di Michele A, Pellegrino RM, Emiliani C.   +5 more
europepmc   +1 more source

USP11‐PGAM5 Axis Promotes Neurotoxic Astrocyte Reactivity by Aggravating the mtDNA‐cGAS‐STING Pathway After Intracerebral Hemorrhage

Advanced Science, EarlyView.
This study reveals that the deubiquitinase USP11 stabilizes PGAM5, triggering neurotoxic astrocyte transformation after intracerebral hemorrhage. PGAM5 promotes mPTP opening and Drp1 dephosphorylation, synergistically amplifying mtDNA leakage into the cytosol and leading to cGAS–STING hyperactivation.
Jiaqing He, Zijuan Qin, Yaning Cai, Haixiao Liu, Tinghao Wang, Qing Hu, Yanni Xu, Pan Yang, Xun Wu, Yan Qu, Wei Guo   +10 more
wiley   +1 more source

Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study. [PDF]

Orphanet J Rare Dis, 2021
Terai H, Tamai K, Hoshino M, Toyoda H, Suzuki A, Takahashi S, Hori Y, Yabu A, Nakamura H.   +8 more
europepmc   +1 more source

GSK3β‐Regulated Lipolysis is Required for Histone Acetylation and Decidualization in Early Pregnancy

Advanced Science, EarlyView.
Uterine Gsk3b knockout impairs decidual cell terminal differentiation by causing lipid droplet accumulation. GSK3β phosphorylates RNF213 to promote its lysosomal degradation, thereby enhancing lipolysis. The released fatty acids undergo β‐oxidation to generate acetyl‐CoA, which modulates histone acetylation and regulates decidual cell terminal ...
Peiran Wang, Yedong Tang, Xueling Zhao, Yu Ni, Hualan Zhou, Enhao Zhang, Gaizhen Li, Han Cai, Yinan Wang, James R. Woodgett, Wenbo Deng, Haibin Wang, Zhongxian Lu, Haili Bao, Shuangbo Kong   +14 more
wiley   +1 more source